{{Rsnum
|rsid=11362
|Gene=DEFB1
|Chromosome=8
|position=6877877
|Orientation=minus
|GMAF=0.404
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=DEFB1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 16.8 | 45.1 | 38.1
| HCB | 15.3 | 48.2 | 36.5
| JPT | 8.0 | 53.1 | 38.9
| YRI | 8.9 | 36.3 | 54.8
| ASW | 10.5 | 50.9 | 38.6
| CHB | 15.3 | 48.2 | 36.5
| CHD | 13.9 | 49.1 | 37.0
| GIH | 14.9 | 53.5 | 31.7
| LWK | 15.6 | 43.1 | 41.3
| MEX | 15.5 | 50.0 | 34.5
| MKK | 13.5 | 45.5 | 41.0
| TSI | 16.7 | 48.0 | 35.3
| HapMapRevision=28
}}Heterozygotes for SNP [[rs11362]], located in the [[DEFB1]] gene, are reported to be at increased risk for colonic [[Crohn's disease]] - but not the ileal or ileocolonic forms of the disease - based on a study of 190 Caucasians. The odds ratio is 2.393 (CI: 1.18-4.87, p=0.02).{{PMID|17943629}} 

{{PMID|18938660}} G-20A [[rs11362]](A;G) 2.4x risk colonic and ileocolonic [[Crohn's disease]] but no association was detected for the ileal localization

{{ neighbor
| rsid = 1800972
| distance = 24
}}

{{PMID Auto
|PMID=19460328
|Title=SNP 668C (-44) alters a NF-kappaB1 putative binding site in non-coding strand of human beta-defensin 1 (DEFB1) and is associated with lepromatous leprosy
}}

{{PMID Auto
|PMID=20371866
|Title=The Antimicrobial Peptide DEFB1 is Associated with Caries
}}
{{PMID Auto
|PMID=20618470
|Title=Beta defensin-1 gene (DEFB1) polymorphisms are not associated with atopic dermatitis in children and adolescents from northeast Brazil (Recife, Pernambuco)
}}

{{PMID Auto
|PMID=16700921
|Title=Contribution of alpha- and beta-defensins to lung function decline and infection in smokers: an association study.
|OA=1
}}

{{PMID Auto
|PMID=18396467
|Title=Genetic variation and haplotype structures of innate immunity genes in eastern India.
|OA=1
}}

{{PMID Auto
|PMID=18991164
|Title=Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis.
}}

{{PMID Auto
|PMID=19712472
|Title=Association of a genetic polymorphism (-44 C/G SNP) in the human DEFB1 gene with expression and inducibility of multiple beta-defensins in gingival keratinocytes.
|OA=1
}}

{{PMID Auto
|PMID=22384213
|Title=Genetic variability in beta-defensins is not associated with susceptibility to Staphylococcus aureus bacteremia.
|OA=1
}}

{{PMID Auto
|PMID=22809755
|Title=Immune defense single nucleotide polymorphisms and recruitment strategies associated with contact lens keratitis
}}

{{PMID Auto
|PMID=23204181
|Title=Impaired beta-defensin expression in human skin links DEFB1 promoter polymorphisms with persistent Staphylococcus aureus nasal carriage.
}}

{{PMID Auto
|PMID=25083086
|Title=Relevance of α-defensins (HNP1-3) and defensin β-1 in diabetes
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}